SHANK proteins: roles at the synapse and in autism spectrum disorder

Mutations in the genes encoding the SH3 and multiple ankyrin repeat domains protein (SHANK) family have been linked to autism spectrum disorder, driving a wave of recent studies that aimed to dissect their functional roles in the brain. Monteiro and Feng describe recent findings that have begun to shed light on the important roles of SHANK proteins at the synapse. Several large-scale genomic studies have supported an association between cases of autism spectrum disorder and mutations in the genes SH3 and multiple ankyrin repeat domains protein 1 (SHANK1), SHANK2 and SHANK3, which encode a family of postsynaptic scaffolding proteins that are present at glutamatergic synapses in the CNS. An evaluation of human…